NM_001395413.1(POR):c.1499C>T (p.Ala500Val) AND Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000405449.17
Allele description [Variation Report for NM_001395413.1(POR):c.1499C>T (p.Ala500Val)]
NM_001395413.1(POR):c.1499C>T (p.Ala500Val)
Condition(s)
Assertion and evidence details
Last Updated: Mar 23, 2024